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Clinical, histologic, and ultrastructural findings in two cases of infantile systemic hyalinosis
M T Glover1, B D Lake, D J Atherton
1Department of Dermatology, Hospital for Sick Children, London, UK.
Insights
Two infants presented with stiff skin, joint contractures, and unique papules, indicating infantile systemic hyalinosis. Histologic findings confirmed hyaline material, consistent with this rare genetic disorder.
Area of Science:
- Dermatology
- Pediatrics
- Genetics
Background:
- Infantile systemic hyalinosis (ISH) is a rare, severe genetic disorder.
- It is characterized by the deposition of hyaline material in various tissues.
- Previous reports described four infants with ISH.
Observation:
- Two new infants presented with stiff skin and painful joint contractures within months of birth.
- Clinical features included gingival hyperplasia, facial/trunk papules, perianal nodules, and bloody diarrhea.
- Histological examination revealed hyaline material in the papillary dermis and gut mucosa.
Findings:
- Both infants shared identical clinical, histological, and ultrastructural features with previously reported ISH cases.
- Ultrastructural analysis showed a distinctive fibrillogranular appearance of the deposited material.
- One patient exhibited overlapping features with juvenile hyaline fibromatosis, suggesting a spectrum of disease.
Implications:
- This study expands the cohort of infantile systemic hyalinosis cases.
- It reinforces the diagnostic criteria for ISH based on clinical and histological findings.
- The overlap with juvenile hyaline fibromatosis may necessitate re-evaluation of classification and understanding of these related disorders.
Abstract:
Two unrelated infants had stiff skin and painful joint contractures in the first few months of life. Other features included gingival hyperplasia, small papules on the face and trunk, perianal nodules, and bloody diarrhea. Hyaline material was evident in the papillary dermis and gut mucosa in both patients. Ultrastructural examination revealed a distinctive fibrillogranular appearance. These infants have the same clinical, histologic, and ultrastructural features as four infants we reported previously with infantile systemic hyalinosis. One of the patients described here demonstrated some features that overlap with those of juvenile hyaline fibromatosis.